I haven’t brought myself to write since November of 2019.
My last blog post was written on a basis of finding thankfulness and humbleness despite the darkness of Autism Spectrum Disorder. It is now May 2020 and I would give anything in the world to have that severe autism diagnosis back in our lives.
On March 25, 2020, our five year old daughter, Haidyn, was diagnosed with a fatal, genetically inherited disease. Diagnosis: Mucopolysaccharidos lllA – Sanfilippo Syndrome.
WHAT IS SANFILIPPO SYNDROME?
IMAGINE ALZHEIMER’S, BUT IN CHILDREN.
“In a nutshell, that’s what every family of children with Sanfilippo Syndrome faces.
Our children are born with a change in their DNA that causes a very important enzyme to be made improperly … or not at all.
Because they don’t have enough of this critical enzyme, our children cannot breakdown and recycle natural cellular waste. Their cells become clogged with toxic levels of heparan sulfate.
While every cell in the body is affected by Sanfilippo Syndrome, brain cells suffer the most. Sanfilippo’s effects on the brain become apparent between 2-6 years of age – speech problems, developmental delays, challenging behaviors, extreme hyperactivity, and poor sleep. All because of the build-up of cellular waste.
Many children are initially diagnosed with Autism before finding the underlying diagnosis of Sanfilippo Syndrome. Children with Sanfilippo go on to experience progressive dementia similar to Alzheimer’s, stealing away their skills and knowledge. Sanfilippo Syndrome will often cause these children to suffer from seizures. They will lose the ability to eat for themselves and many will get a feeding tube. They will lose the ability to walk and need a wheelchair. All because of Sanfilippo.
Relentless and devastating, children with Sanfilippo Syndrome often pass away in their teenage years.” – Cure Sanfilippo Foundation
Now that you have a general idea of what Sanfilippo Syndrome is, because I’m sure you had no idea, as did we, let’s shuffle back to about late 2019. (This will be long • for everyone that has asked to hear, “Haidyn’s story,” buckle up.)
Towards mid to late 2019 I began to really struggle with the autism diagnosis. Haidyn fit the autism diagnosis based on behaviors and characteristics, but that’s what autism IS. It is a behavioral diagnosis. There is no lab panel, test, scan or any other physical, medical procedure that can SHOW you autism. Autism is strictly diagnosed on a basis of categories that involve behavior, cognitive skills, and even an IQ score. It’s more than that, but you get the idea. As I have stated in the past, Haidyn was diagnosed with severe autism in October of 2018. We didn’t really understand the severe category that she was placed in but over the course of the next year we completely agreed.
Everything has been extremely hard for Haidyn over the last year and it continues to grow harder with each passing day. Normal for autism, right? Well, maybe. If you’re not actively working with your child to help them communicate, cope, understand and feel your love and understanding – maybe. If you’re not involved in all necessary therapies provided by outside sources or even a special needs class – maybe. If you’re not actively communicating with doctors and other medical professionals about where your child is at mentally and physically – maybe… but we were doing all of that and more. My brain can’t even fully grasp all of the little details and even some of the bigger details in regards to everything we have tried in hopes to help our baby girl.
As of late 2019, Haidyn had been involved in speech, occupational, and physical therapy, once a week, every single week, for a year and a half. Her therapists at Mckenna Farms have become some of our family’s favorites. They are amazing and Haidyn has formed a beautiful bond with each of them. Haidyn was also half way into her second year of special needs Pre-K. During the school week, she would receive speech therapy twice a week and occupational therapy once a week. That is SIX therapy sessions a week, alongside a structured school environment with a great IEP established for her. At home we took the time to try and implement the same things she was learning in therapy or what they may be focusing on at the time. I’ve read just about every book on autism I could get my hands on, watched countless documentaries and more. Anything, anything, to help ease the autism struggle for our girl.
Despite all of the help from so many hands on deck, we continued to see rapid regression. Don’t get me wrong, there have been many positives from school and therapies as well. I am forever grateful for her wonderful teachers this year and her therapists. They have found ways with her that even I couldn’t find sometimes. They have had an abundance of patience and focus even when I had zero answers for them or even knew where to begin on how to help with certain struggles for Haidyn. All of the good and the bad combined, something still didn’t sit right with me.
Have you heard of “mom intuition?” I call it my mama gut, but it’s a real thing. Looking back, after we moved in August and things became increasingly hard due to routine flying out the window, I fell down into a really dark place mentally. I struggle with depression and anxiety but it came on with a force I hadn’t seen or felt in probably several years. At the time, I assumed most of it was due to Haidyn adjusting to a new home, a new school, a new routine, a new everything. Literally, her family, her doggies and her therapies are the only thing that didn’t really change during our move. So, it was fully expected to be a nightmare for a bit. I assumed because she was struggling, so was my mama heart for her. I now believe it was my mama gut kicking into gear and starting me down the path of finding further answers.
Sitting in the waiting room at Mckenna Farms, with my other special needs mom friends, I was filling out a routine six month evalutaion/questionnaire for Haidyn. Since we started therapy, these have continued to become more difficult to answer. I will attach the two questions that really stuck with me in the recent evaluations, and I sent them to my husband while trying to answer them.
It’s hard to put into words where my mind was in this moment because that’s how far she had regressed and how difficult things had become. Everything about our baby had changed so much that I didn’t even know where to begin or what was a priority for independence or a new skill set I’d prefer for her. I just wanted her to not have to struggle.
Down the rabbit hole I went. I began reading more blogs from autism parents. I started following “Fathering Autism,” on YouTube and Facebook. You should too! They are great. I started reading any parental advice about autism I could find, anywhere. I watched movies based on autistic characters. I researched autism forwards, backwards, left and right online. Nothing, seemed to fit.
I dove deeper. I started researching vaccines. I mean, every single thing, in every single vaccine on every single credible website I could find. Victoria, if you’re reading this, thanks for your help. I researched vaccine injuries and side effects. Then I dove into the medication side of things. Pain medication, antibiotics, anesthesia, etc. I watched the vaxxed documentary. I watched some interesting and some weird conspiracy theories on YouTube. After all of that research, I scrambled through every single piece of medical history and documentation of Haidyn’s since birth. I mean everything. If I didn’t know what it was or what it meant, I looked it up. I’ve actually found myself to be a decently educated individual on medical stuff these days. Furthermore, I dove into genetics. I read about gene mutations, genetic errors and overall, how your genetics play a role in every thing that happens with your body. I shuffled through my dad’s medical documents to find a genetic test he had done a while back and found that he had a specific gene mutation that I was curious about Haidyn possibly having. Side bar – that gene mutation would’ve been a much better alternative to the one related to Sanfilippo Syndrome. Some say that genetics is experimental but after all of the reading I have done, I find genetics to be a crucial necessity for every child born. I cross referenced all of these things with Autism. Still, no definite answer but an eery feeling that I was on the right path to an answer.
Y’all, I’m lucky that my husband loves me as much as he does because I promise you that I was borderline losing my last marble during this process. Some nights, he would have to force me to put my phone down because I would find myself so sucked into the reading and searching for answers that I would make myself sick. I’ve never been one for surprises or being out of control of a situation. I am also a slight hypochondriac. I can’t help it that I am this way… thanks Dad – genetics.
Genetics. Genetic testing, that was my next path to travel down for answers.
In February of this year I took Haidyn to a routine checkup at her pediatrician’s office. She had some blood work done, I was reminded that she was considered obese, again. She’s not. Have you seen her daddy? She’s just a tall, thick, little girl. During the appointment they did routine blood work to check a few things and I also requested a referral to see a geneticist. The doctor asked why I was curious about genetics and I explained. Little did we both know, neither of us had any idea as to how important this geneticist referral would be for Haidyn. Blood work came back with high cholesterol, high blood pressure, elevated liver enzymes and a diagnosis of mixed hyperlipidemia – related to cholesterol.
At this time, we started seeing a naturopath doctor as well. LOVE HER. If you need a good one, I’ve got her for you! She mentioned Haidyn having some major detox issues from every kind of toxin you can imagine… ok, elevated liver enzymes. That makes sense. Liver = detox. She also mentioned noticing some genetic issues as well but couldn’t explain them.
I started googling geneticists in the Atlanta area and I finally just picked one that seemed fitting and could fit us in within a reasonable time frame. We made it to our appointment with the geneticist on March 5th of this year after waiting over a month to get in with them.
We walked in, Caleb sat down and contained Haidyn as best he could with snacks and the iPad. I began going through the course of Haidyn’s medical history, my pregnancy with her and Braelynne, family medical history and anything else she asked for. We waited about five minutes and Dr. V came in to greet us. She took a seat next to me and over the next hour and a half we talked about everything with Haidyn. She asked me to show her picture of Haidyn from birth up until now at age 5. She kept mentioning how her features were “more coarse,” with each passing year. I agreed but had no idea what in the world she meant. She had us undress Haidyn and she watched her walk, felt of her stomach and back, listened to her breathing and even told us by looking at her, that she thought she was suffering from absence seizures. We had already been questioning the same even though we had inconclusive results from neurology a year before. She sent us for blood work and told us that she would first test Haidyn for lysosomal storage disorders or metabolic disorders. In my uneducated head, I’m thinking, “metabolic = metabolism. That can’t be bad.” She sent us off to the lab, handed us our paperwork from the visit, along with a couple of referrals for an MRI of her abdomen (liver and spleen) and an X-ray of her bones, and that was a wrap while we waited for results.
That night, I came home and started looking through the paperwork she sent home with us. I read on the referrals that explained the testing needed, a diagnostic code. The code represented Mucopolysaccharidosis or MPS. I’m a researcher who hates surprises and likes to know what I’m up against. The first thing I did was look up lysosomal storage disorders. Bad. Next, I looked up metabolic disorders. Same thing – still bad. Lastly, I looked up Mucopolysaccharidosis. Heart breaking. I followed myself down the path and came across Sanfilippo Syndrome. Instantly, I knew what she meant by, “coarse facial features.” ALL OF THESE CHILDREN LOOK LIKE MY CHILD. I read further into symptoms and characteristics. Haidyn was a textbook definition of a Sanfilippo child. I can’t even explain the feeling that came over me. I thought I knew what a heart sinking feeling was… but I definitely know now.
I hopped over to Facebook and started looking for stories or tags related to Sanfilippo children. I came across a page for Sanfilippo parents and I requested to join. I remember a sweet mama, the admin, reaching out to me and me telling her that we were awaiting test results and I was praying that this diagnosis was wrong. She knew it when she looked at my profile and saw pictures of Haidyn. I knew it when I found the description of Sanfilippo Syndrome on google. I confirmed that feeling when I compared my child’s picture to these Sanfilippo parents children. Below is a collage I made while awaiting test results. It shows Haidyn on the right and her two Sanfilippo sisters that are also a part of the same foundation that we are involved with.
After the longest, excruciating, three week wait – we received a phone call that results were in. Due to COVID, we scheduled a conference call for several hours later with Haidyn’s geneticist.
At 12:00 PM, March 25, 2020, we heard the words, “Your daughter has a confirmed diagnosis of Mucopolysaccharidosis lllA – Sanfilippo Syndrome.”
Excuse my language when I say that I am so grateful that my mama intuition lead me here, without fail, and over the course of several years – but damnit if I wish it could be wrong for ONCE! Just once.
Since diagnosis day, we have publicly announced it. Honestly, that was easier to post on Facebook than to pick up the phone and go down the list of all of our loved ones and repeat those words over and over and over. I don’t think I would’ve had the strength… and some days I still don’t. We have created a Facebook page, @HaidynsHope. We have shared several donation links, a fundraiser and witnessed a few family members and friends do the same (over $7000 raised from all). We have started the process of finding a clinical trial that she may be eligible for. We have partnered with the Cure Sanfilippo Foundation and embraced our new Sanfilippo family. Social media definitely has a few pros. ✨ I reached out to Haidyn’s pediatrician, who was completely unaware of what Sanfilippo Syndrome was and we spent quite a while on the phone just talking, her listening as well as being supportive and me trying to explain the little I know. It’s ironic because for five years I heard the words, “normal,” “grow out of it,” “therapy will help,” “common,” “not a big deal,” and many others…. but now I’m the mom educating my child’s doctor about her rare disease. I mean that with zero ill intention – I love her pediatrician. They have been through it all with us as a family and for Haidyn. It goes to show just how rare this disease is and that it is not uncommon for doctors to have very little, if any, knowledge of this family of diseases + mom intuition is a super power.
As of today, we are taking it day by day. The joy, the grief, the sadness, the happiness, and all of the other emotions. We are raising awareness any way we can and we are so thankful for each and every single person that has jumped on this journey with us for Haidyn’s Hope.
The beaten path that lead us to the end of 2019 and now into 2020 began with these signs…
•Haidyn is born. January 9th, 2015. She was born with the cord wrapped around her neck and later determined to have underdeveloped lungs/respiratory distress. She also suffered from jaundice. She was placed in the NICU, on a ventilator, for 7 days and released after 10 days. *Sanfilippo Symptom
•6 months+, large head circumference up until present day. *Sanfilippo Symptom
•Haidyn is almost a year old and beginning to walk. She walks on her tip toes and eventually puts one foot down but never the other. After physical therapy evaluation and an orthopedic evaluation she is determined to have an Achilles’ tendon contracture. She had surgery to fix this and “drop her heel,” in August of 2016. *Muscle contracture is a Sanfilippo Symptom
•Also at a year old and even a little bit prior, constant ear infections and upper respiratory infections begin. Antibiotics never seemed to help. In August of 2016, Haidyn had tubes placed in both ears and adenoids removed – the first time. *Sanfilippo Symptom
•Two years old. Sleep is becoming an issue and she snores horribly. A sleep study is done in June of 2017 and Haidyn is diagnosed with severe sleep apnea. *Sanfilippo Symptom
•Ear infections, respiratory infections and sickness continue at age two. In August of 2017, Tonsillectomy is scheduled to help sleep apnea, second set of tubes placed in her ears, and adenoids removed a SECOND TIME, because they grew back fully in a year. Even her ENT was shocked. *Sanfilippo Symptom
•Age 2. Stomach upset was normal for Haidyn but by age 2, chronic diarrhea and vomiting were a daily crisis. *Sanfilippo Symptom
•Summer of 2017, GI visit for stomach issues. Everything comes back normal, aside from a dairy allergy. Dairy is removed from her diet, her stomach is better, but diarrhea is still a normal thing… even to this day. *Sanfilippo Symptom
•Late 2017, a hearing screening is done and results are inconclusive due to Haidyn being uncooperative. We were concerned because speech seemed to be just a tiny bit behind. We assumed it could be related to her hearing and so many ear infections over the first couple years of her life.
•Late 2017, Haidyn is screened by “Babies Can’t Wait,” at her daycare to see if she qualifies for speech therapy through the state for children under three. Haidyn did not qualify or seem delayed enough at the time. Of course, we were thrilled. Delayed speech is a *Sanfilippo Symptom.
•January 2018, age 3, separation anxiety and sensory issues become increasingly painful for her. She started a new daycare and when I say it was awful… it was the worst kind of awful. Not the daycare or the staff, just for her. I can still hear her screaming for me, outside, as I’m getting in my car to go to work and in tears. *Sanfilippo Symptom
•Prior to and continued to try after January 2018, potty training. Terrible. She was not potty trained by three and I could not understand why. We took away pull-ups for two to three weeks completely and cleaned up more pee and poop than you can imagine.. with no achievements in the potty training game. To this day, she is still not potty trained and likely never will be. *Sanfilippo Symptom
•Early 2018 – strange, unexplainable fears all around her, become hard to manage. Sensory overload is in full effect compared to the little we knew about it. Her central nervous system was definitely beginning to regress. *Sanfilippo Symptom
•Summer 2018, tip toe walking is becoming ever prevalent again… with both feet. The tendon that did not need surgery at a year old, is now becoming very tight. *Sanfilippo Symptom
•Fall of 2018, I quit my job to stay at home and help Haidyn. I had this overwhelming feeling I needed to be home. I started keeping kids at the same time to help with income and also provide friends for Haidyn to play with daily. Shortly after is when I really started to notice that something was different. She didn’t play “normal,” and didn’t seem to understand any form of pretend play. Her speech was even further delayed than I had ever noticed. She was 3 at the time and fit in better with 1 year old Emmy versus the girls closer to her age.
•September 2018, developmental assessment is done by her pediatrician and we leave with testing for autism and referrals for speech, occupational, and physical therapy. Also, we must see a cardiologist and an ophthalmologist.
•September 2018, ophthalmologist finds amblyopia or strabismus. Commonly known as, weak eye muscles, lazy eyes or wandering eyes. She also needs glasses and has an astigmatism. *Sanfilippo Symptom
•September 2018, Cardiologist rules heart murmur to be true but innocent. *Sanfilippo Symptom
•September 2018, all three therapies begin. Physical therapy notes weak muscle tone, weak core, extremely clumsy (always has been) and tip toe walking are major issues to focus on. *Sanfilippo Symptoms
•October 2018, Haidyn is diagnosed with Autism Spectrum Disorder, Global Developmental Delay, & Sensory Processing Disorder. *Sanfilippo Symptom
•January 2019, Haidyn begins special needs pre-K. It is a very hard adjustment and change of routine.
•Early 2019 Hyperactivity in full blown manic phase. Her attention span is almost non existent. *Sanfilippo Symptom
Diarrhea continues 🙃
•March & April 2019, Neurologist, EEGs & MRIs (yes, multiple) to check for absence seizures – results are inconclusive. *Sanfilippo Symptom
•MRI results show scar tissue and some damage to all sides of her brain but mainly the left frontal lobe. *Sanfilippo Symptom
•Summer & Fall 2019 (before and after move), behaviors become increasingly hard to manage and control. Calming down is not a choice I get to make her for. *Sanfilippo Symptom
•Fall 2019 to now – new school and teachers (who are all amazing) but Haidyn has an extremely tough time with school, adjusting, understanding direction, following instruction, destructiveness, behavior and diarrhea of course. *Sanfilippo Symptom
•February 2020, seemingly off bloodwork results from routine labs. Elevated liver enzymes & high cholesterol.
•March 5, 2020, first genetic visit and testing done.
•March 2020 – ophthalmology reports her eyes are about the same, no major changes but no new issues. No sign of cataracts, praise God!
•March 2020, MRI of abdomen results in enlarged liver. *Sanfilippo Symptom
•March 2020, Bone Scan XRAY shows deformities in clavicles (shoulders) and hips. *Sanfilippo Symptom
•March 25, 2020 – Diagnosis of Sanfilippo Syndrome. It’s an answer we so desperately were seeking and needed but it’s not the answer we wanted.
As of now, we wait until the COVID19 pandemic ceases or calms down enough to continue with many more appointments. Haidyn is considered an extremely high risk case now for not only COVID19 but any illness, injury or medical issue. We are currently awaiting on follow ups with neurology for seizures, endocrinology for Sanfilippo, UAB to be studied for research and to help Haidyn’s medical team, and hopefully finding eligibility for placement within a clinical trial whether it be in the U.S. or another country. On top of all of that, every step of medical history I mentioned above (that we thought we conquered) has to be followed up on. Not just once more, but continuously for the rest of her life.
We are standing in the valley surrounded by mountains that I’m not sure we could ever climb… but we are going to give it our all.
If you took the time to read all of this, thank you. If I can ask anything, please just tell at least one person about our Haidyn. Raising awareness for Sanfilippo Syndrome is the only HOPE these children have for a cure.
“Hope is love on a mission.” – Cara O’Neill
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